Chromosome 14 Ring

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chromosome 14 Ring is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • r14
  • Ring 14
  • Ring Chromosome 14

Disorder Subdivisions

  • None

General Discussion

Chromosome 14 Ring is a rare disorder that is characterized by abnormalities of the 14th chromosome. Affected infants and children typically have delays in the acquisition of skills that require the coordination of physical and mental activities (psychomotor delays), mental retardation, growth delays, and episodes of uncontrolled electrical activity in the brain (seizures). The disorder is also characterized by distinctive abnormalities of the head and facial (craniofacial) area. Such abnormalities may include an unusually small head (microcephaly) with a high forehead; an elongated face; widely spaced eyes (ocular hypertelorism); a thin upper lip; a flat nasal bridge with a prominent nasal tip; and large, low-set ears.
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Resources

Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
USA
Tel: (561)395-4252
Fax: (561)395-4252
Email: info@chromodisorder.org
Internet: http://www.chromodisorder.org

Epilepsy Foundation
8301 Professional Place
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: info@efa.org
Internet: http://www.epilepsyfoundation.org

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.org

Associazione Internazionale Ring 14 (Ring 14 International Support Group)
Via Victor Marie Hugo nr. 34
Reggio Emilia, Intl 42100
Italy
Tel: 0039 0522 322607
Fax: 0039 0522 324835
Email: info@ring14.com
Internet: http://www.ring14.com

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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